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Aliases for AGL Gene

Aliases for AGL Gene

  • Amylo-Alpha-1, 6-Glucosidase, 4-Alpha-Glucanotransferase 2 3 5
  • Amylo-1, 6-Glucosidase, 4-Alpha-Glucanotransferase 2 3
  • Glycogen Debrancher 3 4
  • GDE 3 4
  • Amylo-Alpha-1, 6-Glucosidase, 4-Alpha-Glucanotransferaseprovided 3
  • Glycogen Storage Disease Type III 2
  • Glycogen Debranching Protein 3
  • Glycogen Debranching Enzyme 2

External Ids for AGL Gene

Previous GeneCards Identifiers for AGL Gene

  • GC01P101113
  • GC01P099441
  • GC01P099606
  • GC01P099778
  • GC01P100027
  • GC01P100088
  • GC01P100315
  • GC01P098438

Summaries for AGL Gene

Entrez Gene Summary for AGL Gene

  • This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for AGL Gene

AGL (Amylo-Alpha-1, 6-Glucosidase, 4-Alpha-Glucanotransferase) is a Protein Coding gene. Diseases associated with AGL include Glycogen Storage Disease Iiia and Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency. Among its related pathways are Glycosaminoglycan metabolism and Metabolism. GO annotations related to this gene include carbohydrate binding and polysaccharide binding.

UniProtKB/Swiss-Prot for AGL Gene

  • Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation.

Tocris Summary for AGL Gene

  • Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two glucosidase subtypes, both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic linkages, liberating alpha-glucose and beta-glucose.

Gene Wiki entry for AGL Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AGL Gene

Genomics for AGL Gene

Regulatory Elements for AGL Gene

Enhancers for AGL Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around AGL on UCSC Golden Path with GeneCards custom track

Promoters for AGL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AGL on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the AGL gene promoter:

Genomic Location for AGL Gene

99,850,077 bp from pter
99,924,023 bp from pter
73,947 bases
Plus strand

Genomic View for AGL Gene

Genes around AGL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AGL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AGL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AGL Gene

Proteins for AGL Gene

  • Protein details for AGL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Glycogen debranching enzyme
    Protein Accession:
    Secondary Accessions:
    • A6NCX7
    • A6NEK2
    • D3DT51
    • P78354
    • P78544
    • Q59H92
    • Q6AZ90
    • Q9UF08

    Protein attributes for AGL Gene

    1532 amino acids
    Molecular mass:
    174764 Da
    Quaternary structure:
    • Monomer. Interacts with NHLRC1/malin.
    • Sequence=BAD92104.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for AGL Gene


neXtProt entry for AGL Gene

Proteomics data for AGL Gene at MOPED

Post-translational modifications for AGL Gene

No data available for DME Specific Peptides for AGL Gene

Domains & Families for AGL Gene

Suggested Antigen Peptide Sequences for AGL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycogen debranching enzyme family.
  • Belongs to the glycogen debranching enzyme family.
genes like me logo Genes that share domains with AGL: view

No data available for Gene Families for AGL Gene

Function for AGL Gene

Molecular function for AGL Gene

GENATLAS Biochemistry:
amylo-1,6-glucosidase (4-alpha-glucantransferase),debranching enzyme,160kDa,glycogen catabolism) with liver,muscle specific and four further minor alternatively spliced isoforms
UniProtKB/Swiss-Prot CatalyticActivity:
Transfers a segment of a (1->4)-alpha-D-glucan to a new position in an acceptor, which may be glucose or a (1->4)-alpha-D-glucan.
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of (1->6)-alpha-D-glucosidic branch linkages in glycogen phosphorylase limit dextrin.
UniProtKB/Swiss-Prot Function:
Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation.

Gene Ontology (GO) - Molecular Function for AGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004133 glycogen debranching enzyme activity TAS 1374391
GO:0005515 protein binding IPI 17908927
GO:0030247 polysaccharide binding IEA --
genes like me logo Genes that share ontologies with AGL: view
genes like me logo Genes that share phenotypes with AGL: view

Human Phenotype Ontology for AGL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AGL Gene

MGI Knock Outs for AGL:
  • Agl tm1b(EUCOMM)Wtsi
  • Agl tm1a(EUCOMM)Wtsi
  • Agl tm1Geno

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for AGL Gene

Localization for AGL Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGL Gene

Cytoplasm. Note=Under glycogenolytic conditions localizes to the nucleus.

Subcellular locations from

Jensen Localization Image for AGL Gene COMPARTMENTS Subcellular localization image for AGL gene
Compartment Confidence
cytosol 5
nucleus 4
endoplasmic reticulum 3
chloroplast 1

No data available for Gene Ontology (GO) - Cellular Components for AGL Gene

Pathways & Interactions for AGL Gene

genes like me logo Genes that share pathways with AGL: view

Pathways by source for AGL Gene

1 BioSystems pathway for AGL Gene
2 KEGG pathways for AGL Gene
1 GeneGo (Thomson Reuters) pathway for AGL Gene

Gene Ontology (GO) - Biological Process for AGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0005980 glycogen catabolic process TAS --
GO:0006006 glucose metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with AGL: view

No data available for SIGNOR curated interactions for AGL Gene

Drugs & Compounds for AGL Gene

(4) Drugs for AGL Gene - From: HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acarbose Approved, Investigational Pharma Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) 81
maltose Experimental Pharma 0
1-Deoxynojirimycin Experimental Pharma Glucosidase I and II inhibitor 0

(14) Additional Compounds for AGL Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Animal starch
  • Glycogen
  • Liver starch
  • Lyoglycogen
  • Phytoglycogen
  • a-D-Glucopyranose
  • a-D-Glucose
  • a-Dextrose
  • a-Glucose
  • alpha-D-Glucopyranose
  • (1,4-alpha-D-Glucosyl)N
  • (1,4-alpha-D-Glucosyl)N+1
  • (1,4-alpha-D-Glucosyl)N-1
  • (1,4-alpha-delta-Glucosyl)N
  • (1,4-alpha-delta-Glucosyl)N+1
  • British gum
  • Caloreen
  • Corn dextrin
  • Crystal gum
  • Dextrid
  • Roferose ST
  • (+)-Glucose
  • Anhydrous dextrose
  • Cerelose
  • Cerelose 2001

(5) Tocris Compounds for AGL Gene

Compound Action Cas Number
1-Deoxymannojirimycin hydrochloride alpha-Mannosidase I inhibitor 73465-43-7
1-Deoxynojirimycin Glucosidase I and II inhibitor 19130-96-2
Acarbose Glucosidase alpha inhibitor (intestinal) 56180-94-0
Castanospermine Glucosidases alpha and beta inhibitor 79831-76-8
OGT 2115 Antiangiogenic. Heparanase inhibitor 853929-59-6
genes like me logo Genes that share compounds with AGL: view

Transcripts for AGL Gene

Unigene Clusters for AGL Gene

Amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AGL Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^ 19 ^
SP2: -
SP5: - -
SP7: -

ExUns: 20 ^ 21 ^ 22

Relevant External Links for AGL Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AGL Gene

mRNA expression in normal human tissues for AGL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AGL Gene

This gene is overexpressed in Muscle - Skeletal (x10.5).

Protein differential expression in normal tissues from HIPED for AGL Gene

This gene is overexpressed in Retina (28.0) and Liver, secretome (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AGL Gene

SOURCE GeneReport for Unigene cluster for AGL Gene Hs.904

mRNA Expression by UniProt/SwissProt for AGL Gene

Tissue specificity: Liver, kidney and lymphoblastoid cells express predominantly isoform 1; whereas muscle and heart express not only isoform 1, but also muscle-specific isoform mRNAs (isoforms 2, 3 and 4). Isoforms 5 and 6 are present in both liver and muscle.
genes like me logo Genes that share expression patterns with AGL: view

Protein tissue co-expression partners for AGL Gene

Orthologs for AGL Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AGL Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia AGL 35
  • 91.73 (n)
  • 92.56 (a)
AGL 36
  • 93 (a)
(Canis familiaris)
Mammalia AGL 35
  • 93.06 (n)
  • 93.86 (a)
AGL 36
  • 94 (a)
(Mus musculus)
Mammalia Agl 35
  • 86.16 (n)
  • 91.91 (a)
Agl 16
Agl 36
  • 92 (a)
(Pan troglodytes)
Mammalia AGL 35
  • 99.7 (n)
  • 99.8 (a)
AGL 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Agl 35
  • 87.25 (n)
  • 92.17 (a)
(Monodelphis domestica)
Mammalia AGL 36
  • 88 (a)
(Ornithorhynchus anatinus)
Mammalia AGL 36
  • 83 (a)
(Gallus gallus)
Aves AGL 36
  • 82 (a)
(Anolis carolinensis)
Reptilia AGL 36
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia agl 35
  • 70.36 (n)
  • 74 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.22218 35
(Danio rerio)
Actinopterygii agla 35
  • 68.8 (n)
  • 75.15 (a)
agla 36
  • 75 (a)
aglb 36
  • 72 (a)
CABZ01041804.1 36
  • 63 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5559 35
fruit fly
(Drosophila melanogaster)
Insecta CG9485 37
  • 48 (a)
CG9485 35
  • 52.02 (n)
  • 48.86 (a)
CG9485 36
  • 44 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001200 35
  • 50.59 (n)
  • 48.18 (a)
(Caenorhabditis elegans)
Secernentea R06A4.8 37
  • 43 (a)
agl-1 35
  • 50.93 (n)
  • 46.11 (a)
agl-1 36
  • 45 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL276C 35
  • 47.42 (n)
  • 41.96 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GDB1 35
  • 51.61 (n)
  • 44.15 (a)
GDB1 36
  • 38 (a)
GDB1 38
GDB1 38
GDB1 38
GDB1 38
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4153 35
bread mold
(Neurospora crassa)
Ascomycetes NCU00743 35
  • 46.88 (n)
  • 40.64 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
Species with no ortholog for AGL:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AGL Gene

Gene Tree for AGL (if available)
Gene Tree for AGL (if available)

Paralogs for AGL Gene

No data available for Paralogs for AGL Gene

Variants for AGL Gene

Sequence variations from dbSNP and Humsavar for AGL Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs2230307 - 99,896,369(+) TTACT(A/G)GACGC reference, missense
VAR_009231 Glycogen storage disease 3 (GSD3)
rs17121464 - 99,875,231(+) GCATC(A/G)ACTCA reference, missense
VAR_009622 -
rs3753494 - 99,892,547(+) ATGTA(C/T)CTTAT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for AGL Gene

Variant ID Type Subtype PubMed ID
nsv526047 CNV Gain 19592680
dgv274n71 CNV Loss 21882294
nsv871116 CNV Gain 21882294
nsv523220 CNV Loss 19592680
esv268327 CNV Insertion 20981092
dgv73e1 CNV Complex 17122850
nsv428146 CNV Gain 18775914
esv2655277 CNV Deletion 19546169

Variation tolerance for AGL Gene

Residual Variation Intolerance Score: 41% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.67; 91.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AGL Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGL Gene

Disorders for AGL Gene

MalaCards: The human disease database

(10) MalaCards diseases for AGL Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease iiia
  • glycogen storage disease iiib
glycogen storage disease due to glycogen debranching enzyme deficiency
  • glycogen storage disease type iii
glycogen storage disease
  • glycogenoses
finger agnosia
glycogen storage disease ia
  • glycogen storage disease i
- elite association - COSMIC cancer census association via MalaCards
Search AGL in MalaCards View complete list of genes associated with diseases


  • Glycogen storage disease 3 (GSD3) [MIM:232400]: A metabolic disorder associated with an accumulation of abnormal glycogen with short outer chains. It is clinically characterized by hepatomegaly, hypoglycemia, short stature, and variable myopathy. Glycogen storage disease type 3 includes different forms: GSD type 3A patients lack glycogen debrancher enzyme activity in both liver and muscle, while GSD type 3B patients are enzyme-deficient in liver only. In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in GSD type 3C or type 3D, respectively. {ECO:0000269 PubMed:10571954}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AGL

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with AGL: view

No data available for Genatlas for AGL Gene

Publications for AGL Gene

  1. Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. (PMID: 8755644) Shen J. … Chen Y.T. (J. Clin. Invest. 1996) 3 23 48 67
  2. Assignment of the human glycogen debrancher gene to chromosome 1p21. (PMID: 1505983) Yang-Feng T.L. … Kao F.T. (Genomics 1992) 2 3 23
  3. Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions. (PMID: 19299494) Cheng A. … Saltiel A.R. (Hum. Mol. Genet. 2009) 3 23
  4. Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations. (PMID: 19834502) Aoyama Y. … Okubo M. (J. Hum. Genet. 2009) 3 23
  5. Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3. (PMID: 18924225) Schoser B. … MA1ller-HAPcker J. (Am. J. Med. Genet. A 2008) 3 23

Products for AGL Gene

Sources for AGL Gene